ClinVar Miner

List of variants studied for Retinal macular dystrophy type 2 by Genome-Nilou Lab

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_006017.3(PROM1):c.303+6G>A rs2078622 0.39397
NM_006017.3(PROM1):c.2374-6T>C rs6449209 0.34571
NM_006017.3(PROM1):c.2582+43C>T rs11725522 0.22440
NM_006017.3(PROM1):c.2281-6C>G rs3815344 0.20394
NM_006017.3(PROM1):c.1003-35A>C rs2286458 0.09908

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